Ecosyste.ms: Papers

10.7717/peerj.5552

Exome sequencing study of 20 patients with high myopia
Cited by: 12
Author(s): Ling Wan, Boling Deng, Zhengzheng Wu, Xiaoming Chen
Software Mentions: 2
Published: about 6 years ago

10.1097/j.pain.0000000000001116

Rare NaV1.7 variants associated with painful diabetic peripheral neuropathy
Cited by: 111
Author(s): Iulia Blesneac, Andreas C. Themistocleous, Carl Fratter, Linus J. Conrad, Juan D. Ramirez, James J. Cox, Solomon Tesfaye, Pallai Rappai Shillo, Andrew S.C. Rice, Stephen J. Tucker, David L.H. Bennett
Software Mentions: 2
Published: almost 7 years ago

10.12688/wellcomeopenres.15420.2

Misannotation of multiple-nucleotide variants risks misdiagnosis
Cited by: 3
Author(s): Matthew N. Wakeling, Thomas W Laver, Kevin Colclough, Andrew Parish, Sian Ellard, Emma L. Baple
Software Mentions: 2
Published: almost 5 years ago

10.1038/s41598-018-26554-7

Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss
Cited by: 14
Author(s): Hongyang Wang, Jing Guan, Liping Guan, Ju Dong Yang, Kaiwen Wu, Qiongfen Lin, Wenping Xiong, Lan Lan, Cui Zhao, Linyi Xie, Lan Yu, Bing Dai, Ling Zhao, Dayong Wang
Software Mentions: 2
Published: over 6 years ago

10.1038/s41598-018-29952-z

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family
Cited by: 23
Author(s): Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam, Sara Galimberti, Chiara Diquigiovanni, Elena Bonora, Roland Eils, Matthias Schlesner, Kari Hemminki, Asta Försti
Software Mentions: 2
Published: over 6 years ago

10.12688/wellcomeopenres.13538.2

Evaluating the performance of tools used to call minority variants from whole genome short-read data
Cited by: 12
Author(s): Khadija Said Mohammed, Nelson Kibinge, Pjotr Prins, Charles N. Agoti, Matthew Cotten, D. James Nokes, Samuel Brand, George Githinji
Software Mentions: 2
Published: about 6 years ago

10.3390/ijms22031130

Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia
Cited by: 9
Author(s): Elena R. Schiff, Vijay Tailor, Hwei Wuen Chan, Maria Theodorou, Andrew R. Webster, Mariya Moosajee
Software Mentions: 2
Published: almost 4 years ago

10.1002/path.4308

Next‐generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in <i>Lamb2</i> and models Pierson's syndrome
Cited by: 4
Author(s): Katherine Bull, Thomas Mason, Andrew Rimmer, Tanya L. Crockford, Karlee Silver, Tiphaine Bouriez-Jones, Tertius Hough, Shirine Chaudhry, Ian Roberts, Christopher C. Goodnow, Richard J. Cornall
Software Mentions: 2
Published: almost 11 years ago

10.12688/wellcomeopenres.14307.1

The Quality Sequencing Minimum (QSM): providing comprehensive, consistent, transparent next generation sequencing data quality assurance
Cited by: 6
Author(s): Shazia Mahamdallie, Elise Ruark, Shawn Yost, Márton Münz, Anthony Renwick, Emma Poyastro-Pearson, Ann Strydom, Sheila Seal, Nazneen Rahman
Software Mentions: 2
Published: over 6 years ago

10.12688/f1000research.9473.2

Case Report: Whole exome sequencing identifies variation c.2308G>A p.E770K in RAG1 associated with B- T- NK+ severe combined immunodeficiency
Cited by: 1
Author(s): Geeta Govindaraj, Shamsudheen Karuthedath Vellarikkal, Rijith Jayarajan, Rowmika Ravi, Ankit Verma, Krishnan Chakkiyar, Machinari Puthenpurayil Jayakrishnan, Riyaz Arakkal, Revathi Raj, Rajeevan Kunnaruvath, Sridhar Sivasubbu, Vinod Scaria
Software Mentions: 2
Published: about 7 years ago

10.12688/f1000research.9472.2

Case Report: Whole exome sequencing identifies a novel frameshift insertion c.1325dupT (p.F442fsX2) in the tyrosine kinase domain of BTK gene in a young Indian individual with X-linked agammaglobulinemia
Cited by: 1
Author(s): Amit Rawat, Shamsudheen Karuthedath Vellarikkal, Ankit Verma, Rijith Jayarajan, Anju Gupta, Surjit Singh, Anita Chopra, Rajive Kumar, Vinod Scaria, Sridhar Sivasubbu
Software Mentions: 2
Published: about 7 years ago

10.1186/s12885-019-5994-5

Substantial batch effects in TCGA exome sequences undermine pan-cancer analysis of germline variants
Cited by: 16
Author(s): Roni Rasnic, Nadav Brandes, Or Zuk, Michal Linial
Software Mentions: 2
Published: over 5 years ago

10.1038/s41598-019-50102-6

Segregation and potential functional impact of a rare stop-gain PABPC4L variant in familial atypical Parkinsonism
Cited by: 3
Author(s): Muhammad Aslam, Atta Ullah, Nagarajan Paramasivam, Nirosiya Kandasamy, Saima Naureen, Mazhar Badshah, Kafaitullah Khan, Muhammad Wajid, Rashda Abbasi, Roland Eils, Marc A. Brockmann, Matthias Schlesner, Nafees Ahmad, Jakob von Engelhardt
Software Mentions: 2
Published: about 5 years ago

10.12688/f1000research.15016.2

Analysis of CDKN1C in fetal growth restriction and pregnancy loss
Cited by: 6
Author(s): Jenifer P. Suntharalingham, Miho Ishida, Federica Buonocore, Ignacio del Valle, Nita Solanky, Charalambos Demetriou, Lesley Regan, Gudrun E. Moore, John C. Achermann
Software Mentions: 2
Published: over 4 years ago

10.3389/fbioe.2020.00179

Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing
Cited by: 11
Author(s): Aayushi Srivastava, Sara Galimberti, Abhishek Kumar, Nagarajan Paramasivam, Dagmara Dymerska, Wolfgang Behnisch, Mathias Witzens‐Harig, Jan Lubiński, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli
Software Mentions: 2
Published: over 4 years ago

10.3389/fbioe.2015.00008

The Challenge of Small-Scale Repeats for Indel Discovery
Cited by: 37
Author(s): Giuseppe Narzisi, Michael C. Schatz
Software Mentions: 2
Published: almost 10 years ago

10.1038/s41598-019-53181-7

RBV: Read balance validator, a tool for prioritising copy number variations in germline conditions
Cited by: 0
Author(s): Whitney Whitford, Klaus Lehnert, Russell G. Snell, Jessie C. Jacobsen
Software Mentions: 2
Published: about 5 years ago

10.3389/fendo.2020.00081

Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity
Cited by: 15
Author(s): Petra Loid, Taina Mustila, Riikka E. Mäkitie, Heli Viljakainen, Anders Kämpe, Päivi Tossavainen, Marita Lipsanen‐Nyman, Minna Pekkinen, Outi Mäkitie
Software Mentions: 2
Published: over 4 years ago